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01-07-2007 | Brief Report

Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome

Authors: Lorraine A. Hamiwka, David H. George, Silviu Grisaru, Julian P. Midgley

Published in: Pediatric Nephrology | Issue 7/2007

Abstract

Alport syndrome (AS) is the most common form of hereditary nephritis. Females with X-linked AS are heterozygous carriers of the disease mutation. Carrier status in females without a family history has traditionally been diagnosed by kidney biopsy; more recently skin biopsy has been utilized. We report on a 14-year-old girl with long-standing hematuria and intermittent proteinuria who underwent kidney and skin biopsy to establish a definitive diagnosis. Electron microscopy showed extensive thinning of glomerular basement membrane (GBM), with no evidence of lamination. Immunofluorescence staining showed continuous GBM staining for the α3(IV) and α5(IV) collagen chains, whereas the epidermal basement membrane showed discontinuous α5(IV) collagen staining consistent with an X-linked carrier of AS. Few reports have shown discordance between kidney and skin biopsy findings as seen in this case, presumably due to X chromosome lyonization. We therefore suggest that simultaneous kidney and skin biopsies may be more accurate in the assessment of potential female carriers of AS than either kidney biopsy or skin biopsy alone.

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Title: Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome
Authors: Lorraine A. Hamiwka
David H. George
Silviu Grisaru
Julian P. Midgley
Publication date: 01-07-2007
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 7/2007
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0437-y

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Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome

Abstract

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